Canonical Allele Identifier: CA1190276522
Gene: AMPD1 HGNC NCBI

Linked Data

dbSNP Id: rs1658042758

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677828_114677829insACTT , CM000663.2:g.114677828_114677829insACTT GRCh38
NC_000001.10:g.115220449_115220450insACTT , CM000663.1:g.115220449_115220450insACTT GRCh37
NC_000001.9:g.115021972_115021973insACTT NCBI36
NG_008012.1:g.22730_22731insTAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000369538.4:c.1212+84_1212+85insTAAG ENSP00000358551.4:n.1212+84_1212+85insTAAG
ENST00000520113.7:c.1224+84_1224+85insTAAG MANE Select ENSP00000430075.3:n.1224+84_1224+85insTAAG
ENST00000637080.1:c.1007+84_1007+85insTAAG ENSP00000489753.1:n.1007+84_1007+85insTAAG
ENST00000639077.1:n.889+84_889+85insTAAG
ENST00000369538.3:c.1311+84_1311+85insTAAG ENSP00000358551.3:n.1311+84_1311+85insTAAG
ENST00000520113.6:c.1323+84_1323+85insTAAG ENSP00000430075.2:n.1323+84_1323+85insTAAG
NM_000036.2:c.1323+84_1323+85insTAAG NP_000027.2:n.1323+84_1323+85insTAAG
NM_001172626.1:c.1311+84_1311+85insTAAG NP_001166097.1:n.1311+84_1311+85insTAAG
NM_000036.3:c.1224+84_1224+85insTAAG MANE Select NP_000027.3:n.1224+84_1224+85insTAAG
NM_001172626.2:c.1212+84_1212+85insTAAG NP_001166097.2:n.1212+84_1212+85insTAAG